BC Children's Hospital Research Institute is pleased to congratulate the recipients of the 2018 Outstanding Achievement Awards and the 2018 BCCHR Studentships and Fellowships.
My research involves investigating new technologies for use in clinical genetic testing. I am also interested in identifying novel genetic variants in families with rare diseases.
Burden of Common Complex Disease Variants in the Exomes of Two Healthy Centenarian Brothers.
Tindale LC, Zeng A, Bretherick KL, Leach S, Thiessen N, Brooks-Wilson AR
Sex- and subtype-specific analysis of H2AFX polymorphisms in non-Hodgkin lymphoma.
Bretherick KL, Schuetz JM, Morton LM, Purdue MP, Conde L, Gallagher RP, Connors JM, Gascoyne RD, Berry BR, Armstrong B, Kricker A, Vajdic CM, Grulich A, Hjalgrim H, Smedby KE, Skibola CF, Rothman N, Spinelli JJ, Brooks-Wilson AR
Genetic polymorphisms at TIMP3 are associated with survival of adenocarcinoma of the gastroesophageal junction.
Bashash M, Shah A, Hislop G, Treml M, Bretherick K, Janoo-Gilani R, Leach S, Le N, Bajdik C, Brooks-Wilson A
Elevated circulating t(14;18) translocation levels prior to diagnosis of follicular lymphoma.
Bretherick KL, Bu R, Gascoyne RD, Connors JM, Spinelli JJ, Brooks-Wilson AR
Genetic variation within the hypothalamus-pituitary-ovarian axis in women with recurrent miscarriage.
Hanna CW, Bretherick KL, Liu CC, Stephenson MD, Robinson WP
Fertility and aging: do reproductive-aged Canadian women know what they need to know?
Bretherick KL, Fairbrother N, Avila L, Harbord SH, Robinson WP
Estrogen receptor alpha gene polymorphisms are associated with idiopathic premature ovarian failure.
Bretherick KL, Hanna CW, Currie LM, Fluker MR, Hammond GL, Robinson WP
Skewed X-chromosome inactivation is associated with primary but not secondary ovarian failure.
Bretherick KL, Metzger DL, Chanoine JP, Panagiotopoulos C, Watson SK, Lam WL, Fluker MR, Brown CJ, Robinson WP
FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.
Bretherick KL, Fluker MR, Robinson WP
My current research focuses on the validation and implementation of new technologies for clinical genetic testing. We are currently evaluating next generation sequencing (NGS) platforms for use in the clinical lab. While traditional genetic testing methods sequence only one gene at a time, NGS technology enables examination of multiple genes, or even all in the genes in the genome, with a single test. This allows fast and accurate diagnosis of conditions where a specific gene defect is suspected and may also be used to identify the genetic causes of conditions when the specific gene is not known. Implementing NGS testing in the Molecular Genetics Lab will allow us to improve and expand the scope of clinical genetic testing available in BC.
Implementation of NGS technologies allows discovery of disease genes in families with rare diseases for which a diagnosis cannot be determined. Identifying genetic causes for rare diseases in families will alleviate uncertainty of diagnosis, provide basis for genetic counselling regarding family planning and may provide insight into therapy and treatment.Grants
2013 Rare Disease Foudnation Microgrant. Castleman Disease
2013 Rare Disease Foundation Microgrant. Hairy Cell Leukemia